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2024-04-19 11:34:21, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001226 1661 bp mRNA linear PRI 08-JUN-2013
DEFINITION Homo sapiens caspase 6, apoptosis-related cysteine peptidase
(CASP6), transcript variant alpha, mRNA.
ACCESSION NM_001226
VERSION NM_001226.3 GI:73622128
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1661)
AUTHORS Velazquez-Delgado,E.M. and Hardy,J.A.
TITLE Zinc-mediated allosteric inhibition of caspase-6
JOURNAL J. Biol. Chem. 287 (43), 36000-36011 (2012)
PUBMED 22891250
REMARK GeneRIF: binding of zinc at the exosite is the primary route of
inhibition, potentially locking caspase-6 into the inactive helical
conformation.
Erratum:[J Biol Chem. 2013 Apr 19;288(16):11508]
REFERENCE 2 (bases 1 to 1661)
AUTHORS Stanger,K., Steffek,M., Zhou,L., Pozniak,C.D., Quan,C., Franke,Y.,
Tom,J., Tam,C., Krylova,I., Elliott,J.M., Lewcock,J.W., Zhang,Y.,
Murray,J. and Hannoush,R.N.
TITLE Allosteric peptides bind a caspase zymogen and mediate caspase
tetramerization
JOURNAL Nat. Chem. Biol. 8 (7), 655-660 (2012)
PUBMED 22683611
REMARK GeneRIF: peptide binds at a tetramerization interface that is
uniquely present in zymogen caspase-6, rather than binding into the
active site, and acts via a new allosteric mechanism that promotes
caspase tetramerization
Erratum:[Nat Chem Biol. 2012 Jul;8(7). doi: 10.1038/nchembio.967.
Krylova, Irina [added]]
REFERENCE 3 (bases 1 to 1661)
AUTHORS Cao,Q., Wang,X.J., Liu,C.W., Liu,D.F., Li,L.F., Gao,Y.Q. and
Su,X.D.
TITLE Inhibitory mechanism of caspase-6 phosphorylation revealed by
crystal structures, molecular dynamics simulations, and biochemical
assays
JOURNAL J. Biol. Chem. 287 (19), 15371-15379 (2012)
PUBMED 22433863
REMARK GeneRIF: Results showed the inhibition mechanism of CASP6
phosphorylation and laid the foundation for a new strategy of
rational CASP6 drug design.
REFERENCE 4 (bases 1 to 1661)
AUTHORS Soares,J., Lowe,M.M. and Jarstfer,M.B.
TITLE The catalytic subunit of human telomerase is a unique caspase-6 and
caspase-7 substrate
JOURNAL Biochemistry 50 (42), 9046-9055 (2011)
PUBMED 21936563
REMARK GeneRIF: Caspase-6 cleaves human TERT at residues E129 and D637 as
part of the apoptosis pathway in cultured cells.
REFERENCE 5 (bases 1 to 1661)
AUTHORS Muller,I., Lamers,M.B., Ritchie,A.J., Park,H., Dominguez,C.,
Munoz-Sanjuan,I., Maillard,M. and Kiselyov,A.
TITLE A new apo-caspase-6 crystal form reveals the active conformation of
the apoenzyme
JOURNAL J. Mol. Biol. 410 (2), 307-315 (2011)
PUBMED 21621544
REMARK GeneRIF: New crystal form of apo-caspase-6 is presented in
canonical conformation by identifying the previous apostructure as
a hydrogen-ion concentration (pH)-inactivated form of caspase-6.
REFERENCE 6 (bases 1 to 1661)
AUTHORS Bullrich,F., Fernandes-Alnemri,T., Litwack,G., Alnemri,E.S. and
Croce,C.M.
TITLE Chromosomal mapping of cell death proteases CPP32, MCH2, and MCH3
JOURNAL Genomics 36 (2), 362-365 (1996)
PUBMED 8812467
REFERENCE 7 (bases 1 to 1661)
AUTHORS Tiso,N., Pallavicini,A., Muraro,T., Zimbello,R., Apolloni,E.,
Valle,G., Lanfranchi,G. and Danieli,G.A.
TITLE Chromosomal localization of the human genes, CPP32, Mch2, Mch3, and
Ich-1, involved in cellular apoptosis
JOURNAL Biochem. Biophys. Res. Commun. 225 (3), 983-989 (1996)
PUBMED 8780721
REFERENCE 8 (bases 1 to 1661)
AUTHORS Takahashi,A., Alnemri,E.S., Lazebnik,Y.A., Fernandes-Alnemri,T.,
Litwack,G., Moir,R.D., Goldman,R.D., Poirier,G.G., Kaufmann,S.H.
and Earnshaw,W.C.
TITLE Cleavage of lamin A by Mch2 alpha but not CPP32: multiple
interleukin 1 beta-converting enzyme-related proteases with
distinct substrate recognition properties are active in apoptosis
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (16), 8395-8400 (1996)
PUBMED 8710882
REFERENCE 9 (bases 1 to 1661)
AUTHORS Fernandes-Alnemri,T., Litwack,G. and Alnemri,E.S.
TITLE Mch2, a new member of the apoptotic Ced-3/Ice cysteine protease
gene family
JOURNAL Cancer Res. 55 (13), 2737-2742 (1995)
PUBMED 7796396
REFERENCE 10 (bases 1 to 1661)
AUTHORS Fernandes-Alnemri,T., Litwack,G. and Alnemri,E.S.
TITLE CPP32, a novel human apoptotic protein with homology to
Caenorhabditis elegans cell death protein Ced-3 and mammalian
interleukin-1 beta-converting enzyme
JOURNAL J. Biol. Chem. 269 (49), 30761-30764 (1994)
PUBMED 7983002
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from U20536.1, BC000305.2 and
AC004067.1.
This sequence is a reference standard in the RefSeqGene project.
On Aug 19, 2005 this sequence version replaced gi:14916482.
Summary: This gene encodes a protein which is a member of the
cysteine-aspartic acid protease (caspase) family. Sequential
activation of caspases plays a central role in the execution-phase
of cell apoptosis. Caspases exist as inactive proenzymes which
undergo proteolytic processing at conserved aspartic residues to
produce two subunits, large and small, that dimerize to form the
active enzyme. This protein is processed by caspases 7, 8 and 10,
and is thought to function as a downstream enzyme in the caspase
activation cascade. Alternative splicing of this gene results in
two transcript variants that encode different isoforms. [provided
by RefSeq, Jul 2008].
Transcript Variant: This variant (alpha) represents the longer
transcript and encodes the longer isoform (alpha).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: U20536.1, BC000305.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-52 U20536.1 1-52
53-1357 BC000305.2 1-1305
1358-1661 AC004067.1 116153-116456 c
FEATURES Location/Qualifiers
source 1..1661
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q25"
gene 1..1661
/gene="CASP6"
/gene_synonym="MCH2"
/note="caspase 6, apoptosis-related cysteine peptidase"
/db_xref="GeneID:839"
/db_xref="HGNC:1507"
/db_xref="HPRD:03321"
/db_xref="MIM:601532"
exon 1..118
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
CDS 79..960
/gene="CASP6"
/gene_synonym="MCH2"
/EC_number="3.4.22.59"
/note="isoform alpha preproprotein is encoded by
transcript variant alpha; caspase 6, apoptosis-related
cysteine protease; apoptotic protease MCH-2"
/codon_start=1
/product="caspase-6 isoform alpha preproprotein"
/protein_id="NP_001217.2"
/db_xref="GI:14916483"
/db_xref="CCDS:CCDS3684.1"
/db_xref="GeneID:839"
/db_xref="HGNC:1507"
/db_xref="HPRD:03321"
/db_xref="MIM:601532"
/translation="
MSSASGLRRGHPAGGEENMTETDAFYKREMFDPAEKYKMDHRRRGIALIFNHERFFWHLTLPERRGTCADRDNLTRRFSDLGFEVKCFNDLKAEELLLKIHEVSTVSHADADCFVCVFLSHGEGNHIYAYDAKIEIQTLTGLFKGDKCHSLVGKPKIFIIQACRGNQHDVPVIPLDVVDNQTEKLDTNITEVDAASVYTLPAGADFLMCYSVAEGYYSHRETVNGSWYIQDLCEMLGKYGSSLEFTELLTLVNRKVSQRRVDFCKDPSAIGKKQVPCFASMLTKKLHFFPKSN
"
misc_feature 145..147
/gene="CASP6"
/gene_synonym="MCH2"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:02799"
mat_peptide 148..615
/gene="CASP6"
/gene_synonym="MCH2"
/product="caspase-6 subunit p18"
misc_feature 187..945
/gene="CASP6"
/gene_synonym="MCH2"
/note="Caspase, interleukin-1 beta converting enzyme (ICE)
homologues; Cysteine-dependent aspartate-directed
proteases that mediate programmed cell death (apoptosis).
Caspases are synthesized as inactive zymogens and
activated by proteolysis of the peptide...; Region: CASc;
cd00032"
/db_xref="CDD:28914"
misc_feature order(268..270,442..444,559..561,580..582,727..744,
754..759)
/gene="CASP6"
/gene_synonym="MCH2"
/note="substrate pocket [chemical binding]; other site"
/db_xref="CDD:28914"
misc_feature order(439..441,565..567)
/gene="CASP6"
/gene_synonym="MCH2"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(583..585,682..687,706..708,715..717,724..726,
793..795,817..819,835..837,895..897,910..915,919..921,
928..933)
/gene="CASP6"
/gene_synonym="MCH2"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:28914"
misc_feature order(586..588,679..681)
/gene="CASP6"
/gene_synonym="MCH2"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
misc_feature 613..615
/gene="CASP6"
/gene_synonym="MCH2"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:02799"
misc_feature 655..657
/gene="CASP6"
/gene_synonym="MCH2"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:02799"
mat_peptide 658..957
/gene="CASP6"
/gene_synonym="MCH2"
/product="caspase-6 subunit p11"
misc_feature 847..849
/gene="CASP6"
/gene_synonym="MCH2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by NUAK1; propagated from
UniProtKB/Swiss-Prot (P55212.2); phosphorylation site"
misc_feature 847..849
/gene="CASP6"
/gene_synonym="MCH2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:12171"
exon 119..161
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
exon 162..308
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
variation 179
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:11574696"
variation 181
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11574697"
variation 274
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1042887"
exon 309..385
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
exon 386..561
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
variation 403
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:5030674"
variation 411
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2227927"
variation 483
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:3180479"
variation 558
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:3211296"
exon 562..721
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
variation 622
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:5030593"
exon 722..1661
/gene="CASP6"
/gene_synonym="MCH2"
/inference="alignment:Splign:1.39.8"
STS 759..1658
/gene="CASP6"
/gene_synonym="MCH2"
/standard_name="CASP6_488"
/db_xref="UniSTS:277052"
variation 982
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042889"
STS 1085..1217
/gene="CASP6"
/gene_synonym="MCH2"
/standard_name="D15S1477"
/db_xref="UniSTS:474482"
STS 1099..1222
/gene="CASP6"
/gene_synonym="MCH2"
/standard_name="D11S2560"
/db_xref="UniSTS:37928"
variation 1120
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:5030599"
variation 1245
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:5030600"
variation 1319
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11770"
variation 1333
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:5030601"
variation 1360
/gene="CASP6"
/gene_synonym="MCH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042891"
variation 1373
/gene="CASP6"
/gene_synonym="MCH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1802755"
variation 1394
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:199579435"
variation 1411..1412
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:11574700"
variation 1655
/gene="CASP6"
/gene_synonym="MCH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:3182325"
ORIGIN
ccgagggcggggccgggcccgggagcctgtggcttcaggaagaggagggcaaggtgtctggctgcgcgtttggctgcaatgagctcggcctcggggctccgcagggggcacccggcaggtggggaagaaaacatgacagaaacagatgccttctataaaagagaaatgtttgatccggcagaaaagtacaaaatggaccacaggaggagaggaattgctttaatcttcaatcatgagaggttcttttggcacttaacactgccagaaaggcggggcacctgcgcagatagagacaatcttacccgcaggttttcagatctaggatttgaagtgaaatgctttaatgatcttaaagcagaagaactactgctcaaaattcatgaggtgtcaactgttagccacgcagatgccgattgctttgtgtgtgtcttcctgagccatggcgaaggcaatcacatttatgcatatgatgctaaaatcgaaattcagacattaactggcttgttcaaaggagacaagtgtcacagcctggttggaaaacccaagatatttatcattcaggcatgtcggggaaaccagcacgatgtgccagtcattcctttggatgtagtagataatcagacagagaagttggacaccaacataactgaggtggatgcagcctccgtttacacgctgcctgctggagctgacttcctcatgtgttactctgttgcagaaggatattattctcaccgggaaactgtgaacggctcatggtacattcaagatttgtgtgagatgttgggaaaatatggctcctccttagagttcacagaactcctcacactggtgaacaggaaagtttctcagcgccgagtggacttttgcaaagacccaagtgcaattggaaagaagcaggttccctgttttgcctcaatgctaactaaaaagctgcatttctttccaaaatctaattaattaatagaggctatctaattttacactctgtattgaaaatggctttctcagccaggcgtggttactcacacctgtaatcccagcactttgggagtccaaggtgggcggatcacctgaggtcgggagttcgagaccagcctgaccaacatggagaagccccgtctctactaaaaatgcaaaaaaaaatttagctaggcatggcggcgcatgcctgcaatcccagctacttggaaggctgaggcaggagaatcacttgaacccaggaggtggaggctgcggtgagccgagattgcgccattgcactccagcctgggcaacgagtgaaactccgtctcaaaaaaaagaaaatgtctttctcttccttttatataaatatcgttagggtgaagcattatggtctaatgattcaaatgttttaaagtttaatgcctagcagagaactgccttaaaaaaaaaaaaaaaaagttcatgttggccatggtgaaagggtttgatatggagaaacaaaatcctcaggaaattagataaataaaaatttataagcatttgtattattttttaataaactgcagggttacacaaaaatctagctgatttaacttgtattttgtcacttttttataaaagtttattgtttgatgtttttaaaggtttttgaaatccaggaattaaatcatcccttaataaaatattcgaaattc
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:839 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: TAS
GeneID:839 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:839 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: TAS
GeneID:839 -> Biological process: GO:0006508 [proteolysis] evidence: IDA
GeneID:839 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:839 -> Biological process: GO:0006917 [induction of apoptosis] evidence: TAS
GeneID:839 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:839 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:839 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:839 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:839 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:839 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
GeneID:839 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001217 -> EC 3.4.22.59
by
@meso_cacase at
DBCLS
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